Canonical Allele Identifier: CA340483562

Gene: PCSK9

Linked Data

• dbSNP Id: rs1307552863
• gnomAD v4: 1-55043868-A-G
• MyVariant Identifiers: chr1:g.55509541A>G (hg19) ; chr1:g.55043868A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.55043868A>G , CM000663.2:g.55043868A>G	GRCh38
NC_000001.10:g.55509541A>G , CM000663.1:g.55509541A>G	GRCh37
NC_000001.9:g.55282129A>G	NCBI36
NG_009061.1:g.9322A>G , LRG_275:g.9322A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000673913.2:c.233A>G	ENSP00000501161.2:p.Tyr78Cys
ENST00000710286.1:c.590A>G	ENSP00000518176.1:p.Tyr197Cys
ENST00000673726.1:c.233A>G	ENSP00000501004.1:p.Tyr78Cys
ENST00000673903.1:c.-143A>G	ENSP00000501257.1:n.-143A>G
ENST00000302118.5:c.233A>G MANE Select	ENSP00000303208.5:p.Tyr78Cys
NM_174936.3:c.233A>G , LRG_275t1:c.233A>G	NP_777596.2:p.Tyr78Cys
NR_110451.1:n.182+3465A>G
NM_174936.4:c.233A>G MANE Select	NP_777596.2:p.Tyr78Cys
NR_110451.2:n.182+3465A>G